Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18786107_18786109delCA2695228434COMPc.1345_1347del (p.Pro449del)
c.1186_1188del (p.Pro396del)
c.1246_1248del (p.Pro416del)
19g.18786108G>ACA404885053COMPc.1346C>T (p.Pro449Leu)
c.1187C>T (p.Pro396Leu)
c.1247C>T (p.Pro416Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18786108G>CCA404885052COMPc.1346C>G (p.Pro449Arg)
c.1187C>G (p.Pro396Arg)
c.1247C>G (p.Pro416Arg)
19g.18786108G=CA2326525568COMPc.1346C= (p.Pro449=)
c.1187C= (p.Pro396=)
c.1247C= (p.Pro416=)
19g.18786108G>TCA404885051COMPc.1346C>A (p.Pro449His)
c.1187C>A (p.Pro396His)
c.1247C>A (p.Pro416His)
19g.18786109G>ACA404885056COMPc.1345C>T (p.Pro449Ser)
c.1186C>T (p.Pro396Ser)
c.1246C>T (p.Pro416Ser)
19g.18786109G>CCA404885058COMPc.1345C>G (p.Pro449Ala)
c.1186C>G (p.Pro396Ala)
c.1246C>G (p.Pro416Ala)
 gnomAD v4
19g.18786109G>TCA404885059COMPc.1345C>A (p.Pro449Thr)
c.1186C>A (p.Pro396Thr)
c.1246C>A (p.Pro416Thr)
19g.18786110A>CCA404885063COMPc.1344T>G (p.Cys448Trp)
c.1185T>G (p.Cys395Trp)
c.1245T>G (p.Cys415Trp)
19g.18786110A>GCA506052709COMPc.1344T>C (p.Cys448=)
c.1185T>C (p.Cys395=)
c.1245T>C (p.Cys415=)
19g.18786110A>TCA404885064COMPc.1344T>A (p.Cys448Ter)
c.1185T>A (p.Cys395Ter)
c.1245T>A (p.Cys415Ter)
19g.18786111C>ACA404885065COMPc.1343G>T (p.Cys448Phe)
c.1184G>T (p.Cys395Phe)
c.1244G>T (p.Cys415Phe)
19g.18786111C>GCA404885066COMPc.1343G>C (p.Cys448Ser)
c.1184G>C (p.Cys395Ser)
c.1244G>C (p.Cys415Ser)
19g.18786111C>TCA404885069COMPc.1343G>A (p.Cys448Tyr)
c.1184G>A (p.Cys395Tyr)
c.1244G>A (p.Cys415Tyr)
19g.18786112A>CCA404885072COMPc.1342T>G (p.Cys448Gly)
c.1183T>G (p.Cys395Gly)
c.1243T>G (p.Cys415Gly)
 ClinVar
19g.18786112A>GCA404885074COMPc.1342T>C (p.Cys448Arg)
c.1183T>C (p.Cys395Arg)
c.1243T>C (p.Cys415Arg)
19g.18786112A>TCA404885076COMPc.1342T>A (p.Cys448Ser)
c.1183T>A (p.Cys395Ser)
c.1243T>A (p.Cys415Ser)
19g.18786113G>ACA506052711COMPc.1341C>T (p.Asn447=)
c.1182C>T (p.Asn394=)
c.1242C>T (p.Asn414=)
 gnomAD v4 COSMIC
19g.18786113G>CCA404885090COMPc.1341C>G (p.Asn447Lys)
c.1182C>G (p.Asn394Lys)
c.1242C>G (p.Asn414Lys)
19g.18786113G>TCA404885081COMPc.1341C>A (p.Asn447Lys)
c.1182C>A (p.Asn394Lys)
c.1242C>A (p.Asn414Lys)
19g.18786114T>ACA404885094COMPc.1340A>T (p.Asn447Ile)
c.1181A>T (p.Asn394Ile)
c.1241A>T (p.Asn414Ile)
19g.18786114T>CCA404885099COMPc.1340A>G (p.Asn447Ser)
c.1181A>G (p.Asn394Ser)
c.1241A>G (p.Asn414Ser)
19g.18786114T>GCA404885102COMPc.1340A>C (p.Asn447Thr)
c.1181A>C (p.Asn394Thr)
c.1241A>C (p.Asn414Thr)
19g.18786115T>ACA404885105COMPc.1339A>T (p.Asn447Tyr)
c.1180A>T (p.Asn394Tyr)
c.1240A>T (p.Asn414Tyr)
19g.18786115T>CCA404885106COMPc.1339A>G (p.Asn447Asp)
c.1180A>G (p.Asn394Asp)
c.1240A>G (p.Asn414Asp)
19g.18786115T>GCA404885107COMPc.1339A>C (p.Asn447His)
c.1180A>C (p.Asn394His)
c.1240A>C (p.Asn414His)
19g.18786116G>ACA506052714COMPc.1338C>T (p.Asp446=)
c.1179C>T (p.Asp393=)
c.1239C>T (p.Asp413=)
19g.18786116G>CCA404885108COMPc.1338C>G (p.Asp446Glu)
c.1179C>G (p.Asp393Glu)
c.1239C>G (p.Asp413Glu)
19g.18786116G>TCA404885110COMPc.1338C>A (p.Asp446Glu)
c.1179C>A (p.Asp393Glu)
c.1239C>A (p.Asp413Glu)
19g.18786117T>ACA404885125COMPc.1337A>T (p.Asp446Val)
c.1178A>T (p.Asp393Val)
c.1238A>T (p.Asp413Val)
19g.18786117T>CCA404885127COMPc.1337A>G (p.Asp446Gly)
c.1178A>G (p.Asp393Gly)
c.1238A>G (p.Asp413Gly)
19g.18786117T>GCA404885133COMPc.1337A>C (p.Asp446Ala)
c.1178A>C (p.Asp393Ala)
c.1238A>C (p.Asp413Ala)
19g.18786117_18786118delCA2576725781COMPc.1336_1337del (p.Asp446GlnfsTer7)
c.1177_1178del (p.Asp393GlnfsTer7)
c.1237_1238del (p.Asp413GlnfsTer7)
19g.18786118C>ACA404885142COMPc.1336G>T (p.Asp446Tyr)
c.1177G>T (p.Asp393Tyr)
c.1237G>T (p.Asp413Tyr)
n.586G>T
19g.18786118C>GCA404885140COMPc.1336G>C (p.Asp446His)
c.1177G>C (p.Asp393His)
c.1237G>C (p.Asp413His)
n.586G>C
 ClinVar dbSNP
19g.18786118C>TCA404885138COMPc.1336G>A (p.Asp446Asn)
c.1177G>A (p.Asp393Asn)
c.1237G>A (p.Asp413Asn)
n.586G>A
19g.18786119C>ACA506052717COMPc.1335G>T (p.Arg445=)
c.1176G>T (p.Arg392=)
c.1236G>T (p.Arg412=)
n.585G>T
19g.18786119C>GCA506052718COMPc.1335G>C (p.Arg445=)
c.1176G>C (p.Arg392=)
c.1236G>C (p.Arg412=)
n.585G>C
19g.18786119C>TCA506052720COMPc.1335G>A (p.Arg445=)
c.1176G>A (p.Arg392=)
c.1236G>A (p.Arg412=)
n.585G>A
 gnomAD v4
19g.18786120C>ACA404885143COMPc.1334G>T (p.Arg445Leu)
c.1175G>T (p.Arg392Leu)
c.1235G>T (p.Arg412Leu)
n.584G>T
19g.18786120C=CA2326525569COMPc.1334G= (p.Arg445=)
c.1175G= (p.Arg392=)
c.1235G= (p.Arg412=)
n.584G=
19g.18786120C>GCA9316435COMPc.1334G>C (p.Arg445Pro)
c.1175G>C (p.Arg392Pro)
c.1235G>C (p.Arg412Pro)
n.584G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786120C>TCA404885149COMPc.1334G>A (p.Arg445Gln)
c.1175G>A (p.Arg392Gln)
c.1235G>A (p.Arg412Gln)
n.584G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18786121G>ACA306255390COMPc.1333C>T (p.Arg445Trp)
c.1174C>T (p.Arg392Trp)
c.1234C>T (p.Arg412Trp)
n.583C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18786121G>CCA404885152COMPc.1333C>G (p.Arg445Gly)
c.1174C>G (p.Arg392Gly)
c.1234C>G (p.Arg412Gly)
n.583C>G
 gnomAD v4
19g.18786121G=CA2326525570COMPc.1333C= (p.Arg445=)
c.1174C= (p.Arg392=)
c.1234C= (p.Arg412=)
n.583C=
19g.18786121G>TCA506052722COMPc.1333C>A (p.Arg445=)
c.1174C>A (p.Arg392=)
c.1234C>A (p.Arg412=)
n.583C>A
19g.18786122A>CCA506052723COMPc.1332T>G (p.Ser444=)
c.1173T>G (p.Ser391=)
c.1233T>G (p.Ser411=)
n.582T>G
19g.18786122A>GCA506052725COMPc.1332T>C (p.Ser444=)
c.1173T>C (p.Ser391=)
c.1233T>C (p.Ser411=)
n.582T>C
19g.18786122A>TCA506052726COMPc.1332T>A (p.Ser444=)
c.1173T>A (p.Ser391=)
c.1233T>A (p.Ser411=)
n.582T>A

Number of alleles fetched